Author
Baylor College of MedicineORCID 0009-0005-3516-7083Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Nikhita Gogate, Angad Jolly, Jill Anne Rosenfeld…·Shamil R. Sunyaev
The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.
Nathalie M. Aceves-Ewing, Denise Grant Lanza, Paul C. Marcogliese…·Andrew B. Crouse
The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.
Alexis Ferrasse, Rodrigo Mendez, John E. Gorzynski…·Carlos A. Pardo-Villamizar
This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini…·Alexandre Reymond
The paper identifies variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.